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All Anomalies
Nervous system
Neural Tube Defects
Anencephalus and similar
Encephalocele
Spina Bifida
Hydrocephalus
Microcephaly
Arhinencephaly/holoprosencephaly
Eye
Anophthalmos/micropthalmos
Anophthalmos
Congenital cataract
Congenital glaucoma
Ear, face and neck
Anotia
Congenital heart defects
Severe CHD §
Common arterial truncus
Double outlet right ventricle §
Transposition of great vessels
Single ventricle
Ventricular septal defect
Atrial septal defect
Atrioventricular septal defect
Tetralogy of Fallot
Tricuspid atresia and stenosis
Ebstein's anomaly
Pulmonary valve stenosis
Pulmonary valve atresia
Aortic valve atresia/stenosis §
Mitral valve anomalies
Hypoplastic left heart
Hypoplastic right heart §
Coarctation of aorta
Aortic atresia/interrupted aortic arch
Total anomalous pulm venous return
PDA as only CHD in term infants (>=37 weeks)
Respiratory
Choanal atresia
Cystic adenomatous malf of lung §
Oro-facial clefts
Cleft lip with or without palate
Cleft palate
Digestive system
Oesophageal atresia with or without tracheo-oesophageal fistula
Duodenal atresia or stenosis
Atresia or stenosis of other parts of small intestine
Ano-rectal atresia and stenosis
Hirschsprung's disease
Atresia of bile ducts
Annular pancreas
Diaphragmatic hernia
Abdominal wall defects
Gastroschisis
Omphalocele
Urinary
Bilateral renal agenesis including Potter syndrome
Multicystic renal dysplasia
Congenital hydronephrosis
Bladder exstrophy and/or epispadia
Posterior urethral valve and/or prune belly
Genital
Hypospadias
Indeterminate sex
Limb
Limb reduction defects
Club foot - talipes equinovarus
Hip dislocation and/or dysplasia
Polydactyly
Syndactyly
Other anomalies / syndromes
Skeletal dysplasias §
Craniosynostosis
Congenital constriction bands/amniotic band
Situs inversus
Conjoined twins
Congenital skin disorders
VATER/VACTERL
Vascular disruption anomalies §
Lateral anomalies §
Teratogenic syndromes with malformations §
Fetal alcohol syndrome
Valproate syndrome §
Maternal infections resulting in malformations
Genetic syndromes + microdeletions
Chromosomal
Down Syndrome
Patau syndrome/trisomy 13
Edward syndrome/trisomy 18
Turner syndrome
Klinefelter syndrome
Anomalies outside normal range
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